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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYH7 Gene

protein-coding   GIFtS: 65
GCID: GC14M023881

myosin, heavy chain 7, cardiac muscle, beta

(Previous names: myopathy, distal 1, myosin, heavy polypeptide 7, cardiac...)
(Previous symbols: CMH1, MPD1)
 Explore 33 diseases affiliated with
MYH7 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MYH7    

Aliases
for MYH7 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Myosin, Heavy Chain 7, Cardiac Muscle, Beta1 2     SPMD2 5
CMD1S1 2 5     SPMM2 5
CMH11 2 5     Beta-Myosin Heavy Chain2
MPD11 2 5     MyHC-Beta1
Myopathy, Distal 11 2     Myhc-Slow1
Myosin, Heavy Polypeptide 7, Cardiac Muscle, Beta1 2     Myosin Heavy Chain (AA 1-96)2
Myosin Heavy Chain 72 3     Myosin-71
Myosin Heavy Chain Slow Isoform2 3     Rhabdomyosarcoma Antigen MU-RMS-40.7A2
Myosin Heavy Chain, Cardiac Muscle Beta Isoform2 3     MyHC-Beta1
MYHCB2 3     MyHC-Slow1

External Ids:    HGNC: 75771   Entrez Gene: 46252   Ensembl: ENSG000000920547   OMIM: 1607605   UniProtKB: P128833   

Export aliases for MYH7 gene to outside databases

Previous GC identifers: GC14M021254 GC14M017669 GC14M021872 GC14M022951 GC14M003998


Summaries
for MYH7 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for MYH7:
Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory
light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed
predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I
muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac
myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid
hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic
cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. (provided by
RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883
Function: Muscle contraction

summary for MYH7:
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding
and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),
almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain
that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts
with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory
myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.
Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is
involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a
contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by
intracellular Ca2+ concentrations.

Gene Wiki entry for MYH7


Genomic Views
for MYH7 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYH7 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   HNF-4alpha2   HNF-4alpha1   YY1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MYH7 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYH7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYH7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2-q13

MYH7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH7 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M023881:  view genomic region     (about GC identifiers)

Start:
 23,881,947 bp from pter      End:
 23,904,927 bp from pter
Size:
 22,981 bases      Orientation:
 minus strand

Proteins
for MYH7 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883 (See protein sequence)
Recommended Name: Myosin-7  
Size: 1935 amino acids; 223097 Da
Subunit: Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain
subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with ECM29
Subcellular location: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils
Miscellaneous: The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase
Caution: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-7 (MYO7)
5 PDB 3D structures from and Proteopedia for MYH7:
1IK2 (3D)        2FXM (3D)        2FXO (3D)        3DTP (3D)        4DB1 (3D)    
Secondary accessions: A2TDB6 B6D424 Q14836 Q14837 Q14904 Q16579 Q2M1Y6 Q92679 Q9H1D5 Q9UDA2 Q9UMM8

Explore the universe of human proteins at neXtProt for MYH7: NX_P12883

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P12883

    • MYH7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000248.2  
    ENSEMBL proteins: 
     ENSP00000347507  

    Human Recombinant Protein Products: 
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    Uscn Proteins for MYH7

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005859muscle myosin complex TAS3021460


    MYH7 for ontologies           About GeneDecksing



    MYH7 Antibody Products: 
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    Uscn Antibodies for MYH7
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    Uscn ELISAs and CLIAs for MYH7

    Protein Domains /
    Families
    for MYH7 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MYH7 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR004009 Myosin_N
     IPR000048 IQ_motif_EF-hand-BS
     IPR002928 Myosin_tail
     IPR001609 Myosin_head_motor_dom

    Graphical View of Domain Structure for InterPro Entry P12883

    ProtoNet protein and cluster: P12883

    3 Blocks protein families:
    IPB000048 IQ calmodulin-binding region
    IPB002928 Myosin tail
    IPB004009 Myosin N-terminal SH3-like domain


    UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883
    Domain: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4
    heptapeptides, characteristic for alpha-helical coiled coils
    Domain: Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later
    be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2)
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 myosin head-like domain


    Function
    for MYH7 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883
    Function: Muscle contraction

         Genatlas biochemistry entry for MYH7:
    myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 7,cardiac muscle,beta

    miRNA
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    Inhib. RNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MYH7

    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity NAS3021460
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI17192269
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--


    MYH7 for ontologies           About GeneDecksing


    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Myh7):
     no phenotypic analysis 

    MYH7 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MYH7 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion_Integrin-mediated cell adhesion and migration
    		Cell adhesion_Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    		Cell adhesion Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases0.49
    2Immune response _CCR3 signaling in eosinophils
    		Immune response _CCR3 signaling in eosinophils1.00
    		Inhibitory action of Lipoxins on neutrophil migration0.51
    		Immune response CCR3 signaling in eosinophils1.00
    3PAK Pathway
    		PAK Pathway1.00
    		Epithelial Adherens Junctions0.36
    		Antioxidant Action of Vitamin-C0.56
    4Cell adhesion Tight junctions
    		Cell adhesion Tight junctions1.00
    		Cell adhesion_Tight junctions0.99
    5Development MAG-dependent inhibition of neurite outgrowth
    		Development MAG-dependent inhibition of neurite outgrowth1.00
    		Development_MAG-dependent inhibition of neurite outgrowth0.87

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5 EMD Millipore Pathways for MYH7
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Tight junctions
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils
    Development MAG-dependent inhibition of neurite outgrowth

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYH7 (see all 13)
        RhoA Pathway
    Factors Promoting Cardiogenesis in Vertebrates
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex

    5/6 GeneGo (Thomson Reuters) Pathways for MYH7 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Inhibitory action of Lipoxins on neutrophil migration
    Immune response CCR3 signaling in eosinophils
    Cell adhesion Tight junctions


    5         Kegg Pathways  (Kegg details for MYH7):
        Cardiac muscle contraction
    Tight junction
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy
    Viral myocarditis


    MYH7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYH7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/122 Interacting proteins for MYH7 (P128832, 3 ENSP000003475074) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    MYH13Q9UKX32, ENSP000002521724MINT-7899812 MINT-7900157 STRING: ENSP00000252172
    MYL3P085902, ENSP000002923274MINT-7899812 MINT-7900157 STRING: ENSP00000292327
    YWHAZP631042, ENSP000003095034MINT-7899812 MINT-7900157 STRING: ENSP00000309503
    MYH9P355792, ENSP000002161814MINT-7899812 MINT-7900157 STRING: ENSP00000216181
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000302response to reactive oxygen species ----
    GO:0002027regulation of heart rate IDA15621050
    GO:0006200ATP catabolic process IDA15621050
    GO:0006936muscle contraction TAS15856146
    GO:0007512adult heart development IMP15856146


    MYH7 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MYH7 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYH7 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for MYH7 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II. Inactive enantiomer of (±)-blebbistatin (Cat. No. 1760)--
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II. Active enantiomer of (±)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (±)-BlebbistatinSelective inhibitor of myosin II[674289-55-5]

    1 DrugBank Compound for MYH7    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-[4-(2,5-DIOXO-PYRROLIDIN-1-YL)-PHENYLAMINO]-4-HYDROXY-BUTYRIC ACID-- --target--10592235

    10/27 Novoseek chemical compound relationships for MYH7 gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mcat 57.4 3 11306707 (1), 12388056 (1), 17962623 (1)
    actomyosin 52.8 1 15498825 (1)
    arginine 27.6 14 17495353 (1), 17560888 (1), 18499102 (1), 19586842 (1) (see all 7)
    gp 130 22.7 1 12829178 (1)
    leucine 21.7 3 12847114 (2), 8435239 (1)
    ryanodine 18.3 2 17556658 (1), 12213966 (1)
    chloramphenicol 16.4 2 10318848 (1), 1915896 (1)
    guanine 14.7 1 1569957 (1)
    isoproterenol 12.5 1 18032525 (1)
    creatinine 10.3 8 9224543 (1), 7591384 (1), 7866607 (1), 7704948 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about MYH7 

    Transcripts
    for MYH7 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for MYH7 gene: 
    NM_000257.2  

    Unigene Cluster for MYH7:

    Myosin, heavy chain 7, cardiac muscle, beta
    Hs.719946  [show with all ESTs]
    Unigene Representative Sequence: NM_000257
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000355349(uc001wjx.3)

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    Clone
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    Additional cDNA sequence: 

    AB209708.1 AK307590.1 AY518538.1 BC112171.1 BC112173.1 BC150520.1 DQ248310.1 EF560725.1 
    EU747717.1 M17712.1 M21665.1 M27729.1 M58018.1 X03741.1 X05631.1 X06976.1 
    X51591.1 

    11 DOTS entries:

    DT.450919  DT.100791347  DT.120770481  DT.87014877  DT.100791340  DT.101956188  DT.40291566  DT.102837376 
    DT.40105982  DT.40133624  DT.95255612 

    24/640 AceView cDNA sequences (see all 640):

    AJ710169 F26891 F31245 F29528 F36151 F31563 F27021 F34349 
    F29894 F26074 CF552343 F30794 CD359896 AJ711518 F22252 F29826 
    F24221 AA346209 F27807 F15533 AJ712055 F26129 F31381 CF552875 

    GeneLoc Exon Structure


    Expression
    for MYH7 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MYH7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGAGCCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MYH7 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/27 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 27) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartHeart TubeHeart Tube CellsMyocardium
    HeartMyocardiumCardiomyocytesMyocardium
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    Skeletal MuscleHyoid Arch MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleHyoid Arch MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMultinuclear MyocytesSkeletal Muscle
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    HeartLeft VentricleCardiomyocytesMyocardium
    HeartOutflow TractCardiomyocytesMyocardium
    HeartRight VentricleCardiomyocytesMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    Cardiomyocyte-like cells (Cardiomyocyte genera...)
    Cardiac mesoderm embryoid bodies (Cardiomyocyte genera...)
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)
    DKK1-induced cells (Derivation of cardio...)
    Mesoderm-like cells (Derivation of cardio...)

    See MYH7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYH7

    SOURCE GeneReport for Unigene cluster: Hs.719946

    UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883
    Tissue specificity: Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Arrays including MYH7: 
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    Orthologs
    for MYH7 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for MYH7 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MYH71 myosin, heavy chain 7, cardiac muscle, beta 82.21(n)
    88.68(a)    		   395350  NM_001001302.1  NP_001001302.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 92(a)
    		 1 ↔ 1
    		 GL343680.1(79290-104571)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia CF153395.12   -- 82.27(n)    CF153395.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii AF114427.22   -- 78.4(n)   30616  AF114427.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Mhc3 striated muscle contraction myosin ATPase 51(a)
    (best of 2)    		   2 36B1   --
    worm
    (Caenorhabditis elegans)    		 Secernentea F58G4.13 myosin 49(a)
    (best of 6)    		   V(8111649-8120439)   --


    ENSEMBL Gene Tree for MYH7 (if available)
    TreeFam Gene Tree for MYH7 (if available) 

    Paralogs
    for MYH7 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYH7 gene
    MYH82  MYH12  MYH22  MYH112  MYH142  MYH92  MYH132  MYH102  
    MYH7B2  MYH42  MYH32  MYH62  MYH152  
    18/29 SIMAP similar genes for MYH7 using alignment to 12 protein entries:     MYH7_HUMAN (see all proteins) (see all similar genes):
    MYH6    MYH13    MYH1    MYH4    MYH8    MYH2
    MYH3    alpha-MHC    MYH15    MYH7B    MYH16    MYO18A
    MYH9    MYH11    MYH10    MYH14    MYO5B    MYO5C

    MYH7 for paralogs           About GeneDecksing



    Genomic Variants
    for MYH7 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/815 NCBI SNPs in MYH7 are shown (see all 815)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219136471,2
    		C,pathogenic4002818(-) CAAGCC/G/TGGAGA 3 P R L mis10--------
    rs362117151,2
    		Cpathogenic4010472(-) TCGCCG/ACAAGG 2 /H /R mis12Minor allele frequency- A:0.00NA 4
    rs1219136441,2
    		C,Fpathogenic4011431(-) CCCAGC/TGGCCA 2 A V mis11Minor allele frequency- T:0.00NA 4548
    rs1219136251,2
    		Cpathogenic4014638(-) AGCCAA/C/TGCCAG 3 S R C mis10--------
    rs1219136241,2
    		Cpathogenic4014911(-) CCCTCA/G/TGGTGA 3 Q R L mis10--------
    rs32187141,2
    		C,Hpathogenic4014912(-) ACCCTC/TGGGTG 2 R W mis15Minor allele frequency- T:0.00NS EA NA 408
    rs32187131,2
    		C,Hpathogenic4017100(-) CATTCG/AAATTC 2 /Q /R mis1 ese36Minor allele frequency- A:0.00NS EA NA 408
    rs1417642791,2
    		C,Fprobable-pathogenic4004043(+) AGGGCG/TTTCTT 2 K N mis12Minor allele frequency- T:0.00NA EU 5205
    rs454907961,2
    		C,unknown4014345(-) ACTCAC/-ACCCA 1 -- int14Minor allele frequency- -:0.00NS 448
    rs71436251,2
    		H--3998940(+) ACTTAG/AAGCTG 1 -- int14Minor allele frequency- A:0.00NS EA 418

    HapMap Linkage Disequilibrium report for MYH7 (23881947 - 23904927 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MYH7: --
    Human Gene Mutation Database (HGMD): MYH7

    Locus Specific Mutation Databases (LSDB): MYH7

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    Disorders / Diseases
    for MYH7 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MYH7 for disorders           About GeneDecksing

    OMIM gene information: 160760   
    OMIM disorders: 192600  613426  608358  160500  181430  
    UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883
  • Defects in MYH7 are the cause of familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600]. Familial
    • hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually
    asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse,
    palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial
    variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death
  • Defects in MYH7 are the cause of myopathy myosin storage (MYOMS) [MIM:608358]. In this disorder, muscle biopsy
    • shows type 1 fiber predominance and increased interstitial fat and connective tissue. Inclusion bodies consisting of
    the beta cardiac myosin heavy chain are present in the majority of type 1 fibers, but not in type 2 fibers
  • Defects in MYH7 are the cause of scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]; also known as
    • scapuloperoneal syndrome myopathic type. SPMM is a progressive muscular atrophia beginning in the lower legs and
    affecting the shoulder region earlier and more severely than distal arm
  • Defects in MYH7 are a cause of cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]. Dilated cardiomyopathy is
    • a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure
    and arrhythmia. Patients are at risk of premature death
  • Defects in MYH7 are the cause of myopathy distal type 1 (MPD1) [MIM:160500]. MPD1 is a muscular disorder
    • characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the
    finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease

    20/33 diseases for MYH7 (see all 33):    About MalaCards
    myopathy    hypertrophic cardiomyopathy    familial hypertrophic cardiomyopathy    dilated cardiomyopathy
    cardiomyopathy    wolff-parkinson-white syndrome    left ventricular noncompaction    left ventricular noncompaction 5
    cardiomyopathy, familial hypertrophic, 1    long qt syndrome    endocardial fibroelastosis    scapuloperoneal syndrome
    laing distal myopathy    rhabdomyosarcoma    oculopharyngeal muscular dystrophy    ebstein anomaly
    acute myocardial infarction    muscular dystrophy    myotonic dystrophy    myocardial infarction

    4 diseases from the University of Copenhagen DISEASES database for MYH7:
    Hypertrophic cardiomyopathy     Familial hypertrophic cardiomyopathy     Dilated cardiomyopathy     Myopathy

    10/33 Novoseek disease relationships for MYH7 gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertrophy 77.2 19 10329202 (2), 10212267 (1), 12520092 (1), 17517351 (1) (see all 16)
    cardiac hypertrophy 75 9 7796500 (1), 19168726 (1), 18693253 (1), 19641707 (1) (see all 8)
    death sudden cardiac 74.7 6 10957787 (1), 16335287 (1), 12881443 (1), 8180512 (1) (see all 6)
    dilated cardiomyopathy 74.5 12 17947214 (2), 18953637 (2), 17434305 (1), 20086309 (1) (see all 10)
    distal myopathies 72.3 7 15322983 (3), 17383184 (2), 17434305 (1), 16103042 (1)
    death sudden 72 9 18383048 (2), 11377367 (1), 16630449 (1), 14563299 (1) (see all 7)
    cardiomyopathy 71.8 17 19864899 (3), 17947214 (2), 11515275 (1), 17372140 (1) (see all 14)
    ventricular hypertrophy 66.1 3 16504640 (1), 8261235 (1)
    myopathy 59 29 17336526 (3), 15699387 (2), 15605950 (2), 16684601 (1) (see all 16)
    myopathy, congenital 56.9 2 15605950 (1), 19336582 (1)

    GeneTests: MYH7
    Familial Hypertrophic Cardiomyopathy
    Dilated Cardiomyopathy
    Laing Distal Myopathy

    Genetic Association Database (GAD): MYH7
    Human Genome Epidemiology (HuGE) Navigator: MYH7 (47 documents)

    Export disorders for MYH7 gene to outside databases

    Publications
    for MYH7 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MYH7 gene, integrated from 9 sources (see all 393):
    (articles sorted by number of sources associating them with MYH7)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PubMed id 15769782)1, 2, 4, 9 Villard E.... Komajda M. (2005)
    2. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PubMed id 15563892)1, 2, 4, 9 Song L.... Hui R. (2005)
    3. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1). (PubMed id 15322983)1, 2, 3, 9 Meredith C.... Laing N.G. (2004)
    4. Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. (PubMed id 15856146)1, 2, 4, 9 Perrot A....Osterziel K.J. (2005)
    5. Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. (PubMed id 15858117)1, 2, 4, 9 Yu B.... Trent R.J. (2005)
    6. A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy. (PubMed id 11214007)1, 2, 4, 9 Havndrup O.... Christiansen M. (2000)
    7. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. (PubMed id 8483915)1, 2, 3, 9 Fananapazir L.... Epstein N.D. (1993)
    8. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)1, 2, 4 Ingles J.... Semsarian C. (2005)
    9. Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. (PubMed id 12820698)1, 2, 4 Mohiddin S.A.... Fananapazir L. (2003)
    10. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. (PubMed id 12081993)1, 2, 4 Ho C.Y....Solomon S.D. (2002)

    External Searches for MYH7 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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    Genome Databases showing MYH7 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4625 HGNC: 7577 AceView: MYH7andMYH6 Ensembl:ENSG00000092054 euGenes: HUgn4625
    ECgene: MYH7 Kegg: 4625 H-InvDB: MYH7

    Other Databases showing MYH7 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MYH7 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MYH7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH7

    Intellectual Property
    for MYH7 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for MYH7 gene:
    Search GeneIP for patents involving MYH7

    GeneCards and IP:
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